Incidental Mutation 'R4667:Col1a2'
ID |
352023 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col1a2
|
Ensembl Gene |
ENSMUSG00000029661 |
Gene Name |
collagen, type I, alpha 2 |
Synonyms |
Col1a-2, Cola-2, Cola2 |
MMRRC Submission |
042012-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4667 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
4505618-4541543 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 4512412 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 99
(M99L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125275
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031668]
[ENSMUST00000141483]
|
AlphaFold |
Q01149 |
Predicted Effect |
unknown
Transcript: ENSMUST00000031668
AA Change: M99L
|
SMART Domains |
Protein: ENSMUSP00000031668 Gene: ENSMUSG00000029661 AA Change: M99L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:Collagen
|
30 |
91 |
1e-8 |
PFAM |
Pfam:Collagen
|
88 |
155 |
8.2e-10 |
PFAM |
internal_repeat_3
|
172 |
223 |
7.52e-12 |
PROSPERO |
low complexity region
|
225 |
271 |
N/A |
INTRINSIC |
low complexity region
|
274 |
313 |
N/A |
INTRINSIC |
low complexity region
|
316 |
352 |
N/A |
INTRINSIC |
internal_repeat_2
|
354 |
386 |
2.06e-15 |
PROSPERO |
internal_repeat_1
|
355 |
469 |
5.71e-17 |
PROSPERO |
internal_repeat_4
|
361 |
472 |
2.1e-11 |
PROSPERO |
Pfam:Collagen
|
475 |
535 |
7.7e-11 |
PFAM |
Pfam:Collagen
|
521 |
588 |
8.2e-10 |
PFAM |
low complexity region
|
598 |
625 |
N/A |
INTRINSIC |
low complexity region
|
628 |
655 |
N/A |
INTRINSIC |
low complexity region
|
679 |
722 |
N/A |
INTRINSIC |
low complexity region
|
724 |
757 |
N/A |
INTRINSIC |
low complexity region
|
759 |
784 |
N/A |
INTRINSIC |
low complexity region
|
792 |
820 |
N/A |
INTRINSIC |
internal_repeat_5
|
823 |
850 |
5.93e-7 |
PROSPERO |
low complexity region
|
853 |
883 |
N/A |
INTRINSIC |
Pfam:Collagen
|
895 |
969 |
1e-8 |
PFAM |
low complexity region
|
987 |
1007 |
N/A |
INTRINSIC |
internal_repeat_5
|
1009 |
1042 |
5.93e-7 |
PROSPERO |
Pfam:Collagen
|
1051 |
1120 |
5.8e-9 |
PFAM |
COLFI
|
1138 |
1372 |
2.1e-150 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132029
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138511
|
Predicted Effect |
unknown
Transcript: ENSMUST00000141483
AA Change: M99L
|
SMART Domains |
Protein: ENSMUSP00000125275 Gene: ENSMUSG00000029661 AA Change: M99L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:Collagen
|
30 |
89 |
3.2e-10 |
PFAM |
Pfam:Collagen
|
87 |
145 |
8.5e-10 |
PFAM |
Pfam:Collagen
|
121 |
177 |
3.3e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204296
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes the alpha-2 subunit of the fibril-forming type I collagen, the most abundant protein of bone, skin and tendon extracellular matrices. The encoded protein, in association with alpha-1 subunit, forms heterotrimeric type I procollagen that undergoes proteolytic processing during fibril formation. Mice harboring certain mutations in the encoded gene exhibit symptoms of moderate to severe forms of osteogenesis imperfecta. [provided by RefSeq, Dec 2015] PHENOTYPE: The tails of mice heterozygous for an ENU-induced mutation at this locus are flexible or rubbery. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 109 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad8 |
A |
G |
9: 26,901,923 (GRCm39) |
L147P |
probably damaging |
Het |
Adgra3 |
T |
A |
5: 50,136,298 (GRCm39) |
Y729F |
possibly damaging |
Het |
Ago2 |
A |
G |
15: 73,018,265 (GRCm39) |
Y58H |
probably damaging |
Het |
Akap13 |
A |
G |
7: 75,378,842 (GRCm39) |
T2128A |
probably damaging |
Het |
Ankhd1 |
C |
A |
18: 36,781,074 (GRCm39) |
P2042Q |
possibly damaging |
Het |
Arhgef15 |
T |
C |
11: 68,845,387 (GRCm39) |
K155R |
probably benign |
Het |
Atp10b |
T |
C |
11: 43,138,345 (GRCm39) |
F1209L |
probably damaging |
Het |
B130006D01Rik |
A |
T |
11: 95,617,335 (GRCm39) |
|
probably benign |
Het |
Bmpr2 |
T |
C |
1: 59,906,875 (GRCm39) |
L656S |
probably damaging |
Het |
Bnip5 |
G |
T |
17: 29,127,287 (GRCm39) |
Q241K |
possibly damaging |
Het |
Btbd17 |
A |
G |
11: 114,684,683 (GRCm39) |
F119L |
possibly damaging |
Het |
Ccdc191 |
G |
T |
16: 43,751,646 (GRCm39) |
K267N |
probably damaging |
Het |
Cd200l1 |
A |
G |
16: 45,264,526 (GRCm39) |
S11P |
probably benign |
Het |
Ceacam20 |
T |
C |
7: 19,719,952 (GRCm39) |
Y495H |
probably damaging |
Het |
Celf2 |
T |
C |
2: 6,726,339 (GRCm39) |
I47V |
probably benign |
Het |
Cemip2 |
G |
A |
19: 21,774,715 (GRCm39) |
R119H |
probably benign |
Het |
Cemip2 |
C |
T |
19: 21,822,145 (GRCm39) |
A1180V |
probably benign |
Het |
Chd9 |
T |
C |
8: 91,760,428 (GRCm39) |
S2058P |
possibly damaging |
Het |
Clcn6 |
T |
C |
4: 148,108,624 (GRCm39) |
E135G |
possibly damaging |
Het |
Cntn1 |
T |
A |
15: 92,192,960 (GRCm39) |
N687K |
probably damaging |
Het |
Cpeb2 |
T |
C |
5: 43,391,235 (GRCm39) |
|
probably benign |
Het |
Csn1s2b |
A |
G |
5: 87,970,170 (GRCm39) |
T134A |
possibly damaging |
Het |
Cst13 |
A |
T |
2: 148,665,001 (GRCm39) |
|
probably benign |
Het |
Cyp2c66 |
T |
A |
19: 39,165,100 (GRCm39) |
D360E |
probably damaging |
Het |
Dhx8 |
A |
G |
11: 101,628,987 (GRCm39) |
S179G |
unknown |
Het |
Dip2b |
A |
G |
15: 100,049,241 (GRCm39) |
I212V |
probably benign |
Het |
Dnah9 |
G |
A |
11: 66,046,357 (GRCm39) |
H64Y |
probably benign |
Het |
Dnal1 |
T |
C |
12: 84,183,474 (GRCm39) |
|
probably benign |
Het |
Dse |
T |
G |
10: 34,029,008 (GRCm39) |
Y694S |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,051,411 (GRCm39) |
I3175V |
probably benign |
Het |
Elf5 |
A |
G |
2: 103,279,405 (GRCm39) |
N209D |
probably damaging |
Het |
Elovl1 |
A |
G |
4: 118,287,984 (GRCm39) |
Y40C |
probably damaging |
Het |
Erp27 |
T |
C |
6: 136,885,150 (GRCm39) |
E216G |
possibly damaging |
Het |
F5 |
G |
A |
1: 164,001,755 (GRCm39) |
V153I |
probably benign |
Het |
Fam186a |
G |
A |
15: 99,842,413 (GRCm39) |
T1277I |
possibly damaging |
Het |
Fam90a1a |
A |
T |
8: 22,453,362 (GRCm39) |
H239L |
possibly damaging |
Het |
Fchsd2 |
G |
T |
7: 100,899,656 (GRCm39) |
R334L |
probably damaging |
Het |
Fermt3 |
T |
C |
19: 6,980,288 (GRCm39) |
Y369C |
probably damaging |
Het |
Fhod3 |
C |
T |
18: 25,199,395 (GRCm39) |
P689S |
probably benign |
Het |
Fnbp1l |
G |
T |
3: 122,350,216 (GRCm39) |
Q332K |
probably benign |
Het |
Frem3 |
T |
C |
8: 81,390,049 (GRCm39) |
S1767P |
probably damaging |
Het |
Ggt5 |
T |
C |
10: 75,438,865 (GRCm39) |
L121P |
probably damaging |
Het |
Gphn |
T |
C |
12: 78,501,591 (GRCm39) |
S119P |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,781,001 (GRCm39) |
D1222G |
probably damaging |
Het |
Hmx3 |
T |
C |
7: 131,146,111 (GRCm39) |
I273T |
possibly damaging |
Het |
Hnrnpu |
A |
G |
1: 178,159,746 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
C |
T |
4: 137,266,956 (GRCm39) |
T1987I |
possibly damaging |
Het |
Ighv1-22 |
T |
A |
12: 114,710,071 (GRCm39) |
Q58L |
probably damaging |
Het |
Ighv14-3 |
T |
A |
12: 114,023,875 (GRCm39) |
I7F |
probably benign |
Het |
Kcns3 |
C |
A |
12: 11,141,784 (GRCm39) |
R305L |
probably damaging |
Het |
Kcnu1 |
C |
T |
8: 26,400,949 (GRCm39) |
A699V |
possibly damaging |
Het |
Kif22 |
A |
C |
7: 126,632,500 (GRCm39) |
L270W |
probably damaging |
Het |
Lrp2 |
G |
T |
2: 69,319,642 (GRCm39) |
H1960Q |
probably benign |
Het |
Marchf7 |
C |
T |
2: 60,071,394 (GRCm39) |
Q94* |
probably null |
Het |
Mcoln3 |
A |
T |
3: 145,836,959 (GRCm39) |
I264F |
probably benign |
Het |
Mdn1 |
A |
C |
4: 32,679,572 (GRCm39) |
T706P |
probably damaging |
Het |
Mfsd2b |
A |
G |
12: 4,917,636 (GRCm39) |
C137R |
probably benign |
Het |
Mmp25 |
A |
G |
17: 23,863,581 (GRCm39) |
V83A |
probably benign |
Het |
Mocos |
T |
C |
18: 24,799,491 (GRCm39) |
Y242H |
probably benign |
Het |
Msh6 |
T |
C |
17: 88,292,234 (GRCm39) |
S330P |
possibly damaging |
Het |
Mtus2 |
T |
C |
5: 148,235,070 (GRCm39) |
S1156P |
possibly damaging |
Het |
Muc5b |
G |
A |
7: 141,396,116 (GRCm39) |
R124H |
unknown |
Het |
Mybbp1a |
G |
A |
11: 72,338,797 (GRCm39) |
E775K |
possibly damaging |
Het |
Myo10 |
A |
G |
15: 25,793,239 (GRCm39) |
E1272G |
possibly damaging |
Het |
Nars1 |
A |
G |
18: 64,638,302 (GRCm39) |
S254P |
possibly damaging |
Het |
Ncapd2 |
A |
G |
6: 125,161,481 (GRCm39) |
I211T |
possibly damaging |
Het |
Ncoa7 |
A |
T |
10: 30,566,786 (GRCm39) |
W582R |
probably damaging |
Het |
Npr3 |
T |
A |
15: 11,905,553 (GRCm39) |
D58V |
possibly damaging |
Het |
Nr3c1 |
G |
T |
18: 39,561,780 (GRCm39) |
T430K |
probably benign |
Het |
Odf2l |
A |
G |
3: 144,833,801 (GRCm39) |
T111A |
probably benign |
Het |
Ogdh |
G |
T |
11: 6,290,600 (GRCm39) |
C406F |
probably benign |
Het |
Olfml2a |
T |
G |
2: 38,839,022 (GRCm39) |
S190A |
probably damaging |
Het |
Optn |
T |
C |
2: 5,037,950 (GRCm39) |
K415E |
probably benign |
Het |
Or10n1 |
T |
C |
9: 39,525,034 (GRCm39) |
M57T |
probably damaging |
Het |
Or52a20 |
A |
G |
7: 103,365,845 (GRCm39) |
T15A |
probably benign |
Het |
Or8b12i |
T |
C |
9: 20,082,394 (GRCm39) |
I158V |
probably benign |
Het |
Or8g52 |
G |
T |
9: 39,631,005 (GRCm39) |
V161F |
probably benign |
Het |
Pakap |
A |
T |
4: 57,855,655 (GRCm39) |
D328V |
possibly damaging |
Het |
Perm1 |
C |
A |
4: 156,304,663 (GRCm39) |
S803* |
probably null |
Het |
Pex14 |
T |
C |
4: 149,068,542 (GRCm39) |
T84A |
probably benign |
Het |
Pih1d2 |
T |
A |
9: 50,532,252 (GRCm39) |
Y103* |
probably null |
Het |
Pikfyve |
T |
A |
1: 65,289,432 (GRCm39) |
C1235S |
probably damaging |
Het |
Polr1a |
A |
G |
6: 71,894,805 (GRCm39) |
N171S |
probably benign |
Het |
Prrx1 |
A |
G |
1: 163,081,616 (GRCm39) |
S201P |
probably benign |
Het |
Psme2b |
A |
T |
11: 48,836,493 (GRCm39) |
N151K |
probably benign |
Het |
Serpinb5 |
A |
T |
1: 106,800,025 (GRCm39) |
T72S |
probably benign |
Het |
Sgsm1 |
A |
G |
5: 113,407,913 (GRCm39) |
|
probably null |
Het |
Sipa1l2 |
T |
C |
8: 126,180,209 (GRCm39) |
R1063G |
possibly damaging |
Het |
Slc19a3 |
T |
C |
1: 83,000,520 (GRCm39) |
T166A |
probably benign |
Het |
Slc5a4b |
T |
C |
10: 75,910,879 (GRCm39) |
Y319C |
possibly damaging |
Het |
Stard3nl |
T |
A |
13: 19,560,689 (GRCm39) |
N29Y |
probably damaging |
Het |
Sult6b2 |
G |
T |
6: 142,747,421 (GRCm39) |
C109* |
probably null |
Het |
Tcf25 |
A |
G |
8: 124,123,764 (GRCm39) |
E467G |
possibly damaging |
Het |
Tmem177 |
A |
T |
1: 119,837,950 (GRCm39) |
V243D |
probably benign |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Tspan11 |
T |
A |
6: 127,920,678 (GRCm39) |
C208* |
probably null |
Het |
Ttc1 |
A |
G |
11: 43,636,144 (GRCm39) |
V33A |
probably benign |
Het |
Tut4 |
G |
A |
4: 108,352,356 (GRCm39) |
E357K |
probably damaging |
Het |
Uck1 |
T |
A |
2: 32,146,046 (GRCm39) |
H283L |
probably damaging |
Het |
Utrn |
A |
C |
10: 12,573,797 (GRCm39) |
V1091G |
probably benign |
Het |
Vmn1r11 |
A |
T |
6: 57,114,483 (GRCm39) |
H49L |
probably damaging |
Het |
Vmn1r160 |
G |
T |
7: 22,571,478 (GRCm39) |
S277I |
probably benign |
Het |
Vmn1r18 |
A |
T |
6: 57,367,069 (GRCm39) |
S162T |
probably benign |
Het |
Vps37b |
A |
G |
5: 124,148,795 (GRCm39) |
L80P |
probably damaging |
Het |
Wfdc3 |
T |
C |
2: 164,585,006 (GRCm39) |
M1V |
probably null |
Het |
Wrn |
A |
T |
8: 33,814,366 (GRCm39) |
N116K |
probably benign |
Het |
Wscd2 |
G |
T |
5: 113,715,333 (GRCm39) |
G391V |
probably damaging |
Het |
Zfp286 |
A |
G |
11: 62,671,428 (GRCm39) |
V215A |
probably benign |
Het |
Zfp568 |
A |
G |
7: 29,722,702 (GRCm39) |
H549R |
probably damaging |
Het |
|
Other mutations in Col1a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00839:Col1a2
|
APN |
6 |
4,531,095 (GRCm39) |
splice site |
probably benign |
|
IGL01126:Col1a2
|
APN |
6 |
4,535,846 (GRCm39) |
missense |
unknown |
|
IGL01129:Col1a2
|
APN |
6 |
4,535,846 (GRCm39) |
missense |
unknown |
|
IGL01286:Col1a2
|
APN |
6 |
4,533,891 (GRCm39) |
missense |
unknown |
|
IGL01687:Col1a2
|
APN |
6 |
4,520,258 (GRCm39) |
nonsense |
probably null |
|
IGL01866:Col1a2
|
APN |
6 |
4,524,132 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02010:Col1a2
|
APN |
6 |
4,512,416 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02100:Col1a2
|
APN |
6 |
4,524,177 (GRCm39) |
splice site |
probably benign |
|
IGL02140:Col1a2
|
APN |
6 |
4,515,639 (GRCm39) |
missense |
unknown |
|
IGL02474:Col1a2
|
APN |
6 |
4,516,398 (GRCm39) |
missense |
unknown |
|
IGL02510:Col1a2
|
APN |
6 |
4,516,398 (GRCm39) |
missense |
unknown |
|
IGL02525:Col1a2
|
APN |
6 |
4,531,355 (GRCm39) |
splice site |
probably benign |
|
IGL02839:Col1a2
|
APN |
6 |
4,538,748 (GRCm39) |
missense |
unknown |
|
IGL03134:Col1a2
|
APN |
6 |
4,521,387 (GRCm39) |
unclassified |
probably benign |
|
IGL03385:Col1a2
|
APN |
6 |
4,539,612 (GRCm39) |
missense |
unknown |
|
hollow
|
UTSW |
6 |
4,538,680 (GRCm39) |
missense |
unknown |
|
marrow
|
UTSW |
6 |
4,531,316 (GRCm39) |
missense |
unknown |
|
myelo
|
UTSW |
6 |
4,515,682 (GRCm39) |
missense |
unknown |
|
P4717OSA:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
PIT4453001:Col1a2
|
UTSW |
6 |
4,527,079 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0021:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0022:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0025:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0027:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0028:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0031:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0038:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0064:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0102:Col1a2
|
UTSW |
6 |
4,520,775 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0147:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0323:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0326:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0326:Col1a2
|
UTSW |
6 |
4,537,838 (GRCm39) |
missense |
unknown |
|
R0335:Col1a2
|
UTSW |
6 |
4,531,956 (GRCm39) |
splice site |
probably benign |
|
R0359:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0363:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0612:Col1a2
|
UTSW |
6 |
4,516,003 (GRCm39) |
missense |
unknown |
|
R0729:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0746:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0760:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0761:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0801:Col1a2
|
UTSW |
6 |
4,531,316 (GRCm39) |
missense |
unknown |
|
R0845:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0846:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0969:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R0970:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R1105:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R1106:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R1107:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R1134:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R1135:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R1152:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R1333:Col1a2
|
UTSW |
6 |
4,515,684 (GRCm39) |
critical splice donor site |
probably null |
|
R1341:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R1470:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R1470:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R1477:Col1a2
|
UTSW |
6 |
4,539,673 (GRCm39) |
missense |
unknown |
|
R1566:Col1a2
|
UTSW |
6 |
4,523,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R1691:Col1a2
|
UTSW |
6 |
4,536,038 (GRCm39) |
missense |
unknown |
|
R1713:Col1a2
|
UTSW |
6 |
4,538,691 (GRCm39) |
missense |
unknown |
|
R1754:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R1755:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2050:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2178:Col1a2
|
UTSW |
6 |
4,531,143 (GRCm39) |
missense |
unknown |
|
R2194:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2195:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2235:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2261:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2262:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2263:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2289:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2310:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2312:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2330:Col1a2
|
UTSW |
6 |
4,528,300 (GRCm39) |
splice site |
probably benign |
|
R2333:Col1a2
|
UTSW |
6 |
4,532,747 (GRCm39) |
missense |
unknown |
|
R2401:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2403:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2448:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2513:Col1a2
|
UTSW |
6 |
4,531,223 (GRCm39) |
splice site |
probably null |
|
R2862:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2884:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2885:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R2913:Col1a2
|
UTSW |
6 |
4,519,923 (GRCm39) |
unclassified |
probably benign |
|
R2937:Col1a2
|
UTSW |
6 |
4,520,788 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2937:Col1a2
|
UTSW |
6 |
4,519,882 (GRCm39) |
unclassified |
probably benign |
|
R2938:Col1a2
|
UTSW |
6 |
4,520,788 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3608:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R3692:Col1a2
|
UTSW |
6 |
4,510,710 (GRCm39) |
missense |
possibly damaging |
0.84 |
R3805:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R3806:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R3826:Col1a2
|
UTSW |
6 |
4,516,960 (GRCm39) |
unclassified |
probably benign |
|
R3903:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R3904:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R3922:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R3926:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R4106:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R4107:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R4108:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R4109:Col1a2
|
UTSW |
6 |
4,510,705 (GRCm39) |
nonsense |
probably null |
|
R4509:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
R4909:Col1a2
|
UTSW |
6 |
4,529,058 (GRCm39) |
splice site |
probably benign |
|
R5418:Col1a2
|
UTSW |
6 |
4,516,931 (GRCm39) |
unclassified |
probably benign |
|
R5587:Col1a2
|
UTSW |
6 |
4,540,531 (GRCm39) |
missense |
unknown |
|
R5598:Col1a2
|
UTSW |
6 |
4,516,916 (GRCm39) |
unclassified |
probably benign |
|
R5673:Col1a2
|
UTSW |
6 |
4,539,622 (GRCm39) |
missense |
unknown |
|
R5678:Col1a2
|
UTSW |
6 |
4,536,239 (GRCm39) |
missense |
unknown |
|
R5763:Col1a2
|
UTSW |
6 |
4,515,682 (GRCm39) |
missense |
unknown |
|
R5786:Col1a2
|
UTSW |
6 |
4,530,223 (GRCm39) |
missense |
unknown |
|
R5872:Col1a2
|
UTSW |
6 |
4,531,926 (GRCm39) |
missense |
unknown |
|
R6084:Col1a2
|
UTSW |
6 |
4,505,840 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
R6134:Col1a2
|
UTSW |
6 |
4,538,035 (GRCm39) |
missense |
unknown |
|
R6221:Col1a2
|
UTSW |
6 |
4,539,490 (GRCm39) |
missense |
unknown |
|
R6481:Col1a2
|
UTSW |
6 |
4,538,680 (GRCm39) |
missense |
unknown |
|
R6500:Col1a2
|
UTSW |
6 |
4,515,517 (GRCm39) |
missense |
unknown |
|
R6890:Col1a2
|
UTSW |
6 |
4,539,587 (GRCm39) |
missense |
unknown |
|
R7022:Col1a2
|
UTSW |
6 |
4,534,639 (GRCm39) |
missense |
unknown |
|
R7033:Col1a2
|
UTSW |
6 |
4,516,904 (GRCm39) |
unclassified |
probably benign |
|
R7195:Col1a2
|
UTSW |
6 |
4,510,753 (GRCm39) |
missense |
unknown |
|
R7657:Col1a2
|
UTSW |
6 |
4,527,152 (GRCm39) |
missense |
probably null |
0.99 |
R7686:Col1a2
|
UTSW |
6 |
4,518,964 (GRCm39) |
missense |
unknown |
|
R7875:Col1a2
|
UTSW |
6 |
4,518,500 (GRCm39) |
missense |
unknown |
|
R8023:Col1a2
|
UTSW |
6 |
4,533,847 (GRCm39) |
missense |
unknown |
|
R8208:Col1a2
|
UTSW |
6 |
4,515,260 (GRCm39) |
splice site |
probably null |
|
R8277:Col1a2
|
UTSW |
6 |
4,516,410 (GRCm39) |
missense |
probably null |
|
R8438:Col1a2
|
UTSW |
6 |
4,515,518 (GRCm39) |
missense |
unknown |
|
R8438:Col1a2
|
UTSW |
6 |
4,515,517 (GRCm39) |
missense |
unknown |
|
R8993:Col1a2
|
UTSW |
6 |
4,535,451 (GRCm39) |
missense |
unknown |
|
R9109:Col1a2
|
UTSW |
6 |
4,515,260 (GRCm39) |
splice site |
probably null |
|
R9298:Col1a2
|
UTSW |
6 |
4,515,260 (GRCm39) |
splice site |
probably null |
|
R9315:Col1a2
|
UTSW |
6 |
4,540,544 (GRCm39) |
missense |
unknown |
|
R9490:Col1a2
|
UTSW |
6 |
4,505,901 (GRCm39) |
missense |
unknown |
|
V5622:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
V5622:Col1a2
|
UTSW |
6 |
4,518,822 (GRCm39) |
unclassified |
probably benign |
|
X0017:Col1a2
|
UTSW |
6 |
4,515,675 (GRCm39) |
missense |
unknown |
|
Z1176:Col1a2
|
UTSW |
6 |
4,532,750 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGCTCTCCTTTAAATAGTACCAGG -3'
(R):5'- GGTAGAGAAAATTGAAACTCCTCAC -3'
Sequencing Primer
(F):5'- GTGTATGACCACTGACCT -3'
(R):5'- ATTGAAACTCCTCACCTGGACTTCAG -3'
|
Posted On |
2015-10-08 |